Human genes for Leber congenital amaurosis 2
Leber congenital amaurosis 2 [DOID:0110016]
A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
Synonyms: Leber congenital amaurosis 2, DOID:0110016, amaurosis congenita of Leber II, LCA2, amaurosis congenita of Leber IIs